H132L (p.His132Leu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
H132L (p.His132Leu) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal cysts and diabetes syndrome. The record also includes published literature and structural context.
H132L (p.His132Leu) variant details
- p.His132Leu
- rs2511829635
- ClinVar RCV004566475
- Likely pathogenic
- Renal cysts and diabetes syndrome
- Missense
- ClinVar: Likely pathogenic (Renal cysts and diabetes syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)